Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0002345 | Action tremor | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0002345 | Action tremor | 0 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0002345 | Action tremor | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0002345 | Action tremor | 0 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0030187 | Titubation | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0030187 | Titubation | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0030187 | Titubation | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0030187 | Titubation | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0030187 | Titubation | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0030187 | Titubation | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0030187 | Titubation | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0030187 | Titubation | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0002599 | Head titubation | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0002599 | Head titubation | 2 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0002599 | Head titubation | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0002599 | Head titubation | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 558 | 17646 | 610661 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0002599 | Head titubation | 2 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 44 | 9305 | 604325 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0002599 | Head titubation | 2 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0002599 | Head titubation | 2 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0002599 | Head titubation | 2 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002345 | HP:0002345 | Action tremor | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0002345 | Action tremor | 0 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0030187 | Titubation | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0030187 | Titubation | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0030187 | Titubation | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0002599 | Head titubation | 2 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 0 | | 111 | 30528 | 608977 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0002599 | Head titubation | 2 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 0 | | 1917 | 9179 | 174763 |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0002599 | Head titubation | 2 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |